ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly)

dbSNP: rs1555853971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588622 SCV004297356 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 541 of the KCNQ2 protein (p.Arg541Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with early onset epileptic encephalopathy (PMID: 25959266). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 369800). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ2 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678181 SCV000484627 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only Uncertain severity

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